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Journal Abstract Search

785 related items for PubMed ID: 19652879

  • 1. Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency.
    Saunders RE, Shiltagh N, Gomez K, Mellars G, Cooper C, Perry DJ, Tuddenham EG, Perkins SJ.
    Thromb Haemost; 2009 Aug; 102(2):287-301. PubMed ID: 19652879
    [Abstract] [Full Text] [Related]

  • 2. Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools.
    Saunders RE, O'Connell NM, Lee CA, Perry DJ, Perkins SJ.
    Hum Mutat; 2005 Sep; 26(3):192-8. PubMed ID: 16086308
    [Abstract] [Full Text] [Related]

  • 3. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
    Guella I, Soldà G, Spena S, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S.
    Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
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  • 4. A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency.
    Bozzao C, Rimoldi V, Asselta R, Landau M, Ghiotto R, Tenchini ML, De Cristofaro R, Castaman G, Duga S.
    FEBS J; 2007 Dec; 274(23):6128-38. PubMed ID: 17971173
    [Abstract] [Full Text] [Related]

  • 5. Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene.
    Kwon MJ, Kim HJ, Bang SH, Kim SH.
    Blood Coagul Fibrinolysis; 2008 Oct; 19(7):679-83. PubMed ID: 18832909
    [Abstract] [Full Text] [Related]

  • 6. Characterization of seven novel mutations causing factor XI deficiency.
    Zucker M, Zivelin A, Landau M, Salomon O, Kenet G, Bauduer F, Samama M, Conard J, Denninger MH, Hani AS, Berruyer M, Feinstein D, Seligsohn U.
    Haematologica; 2007 Oct; 92(10):1375-80. PubMed ID: 18024374
    [Abstract] [Full Text] [Related]

  • 7. Molecular characterization of FXI deficiency.
    Berber E.
    Clin Appl Thromb Hemost; 2011 Feb; 17(1):27-32. PubMed ID: 20308231
    [Abstract] [Full Text] [Related]

  • 8. CoagMDB: a database analysis of missense mutations within four conserved domains in five vitamin K-dependent coagulation serine proteases using a text-mining tool.
    Saunders RE, Perkins SJ.
    Hum Mutat; 2008 Mar; 29(3):333-44. PubMed ID: 18058827
    [Abstract] [Full Text] [Related]

  • 9. Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.
    Quélin F, Mathonnet F, Potentini-Esnault C, Trigui N, Peynet J, Bastenaire B, Guillon L, Bigel ML, Sauger A, Mazurier C, de Mazancourt P.
    Blood Coagul Fibrinolysis; 2006 Jan; 17(1):69-73. PubMed ID: 16607084
    [Abstract] [Full Text] [Related]

  • 10. Four novel FXI gene mutations in three factor XI- deficient patients.
    de Raucourt E, de Mazancourt P, Quélin F.
    Blood Coagul Fibrinolysis; 2008 Apr; 19(3):240-2. PubMed ID: 18388506
    [Abstract] [Full Text] [Related]

  • 11. Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.
    Fard-Esfahani P, Lari GR, Ravanbod S, Mirkhani F, Allahyari M, Rassoulzadegan M, Ala F.
    Haemophilia; 2008 Jan; 14(1):91-5. PubMed ID: 18005151
    [Abstract] [Full Text] [Related]

  • 12. Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K).
    Quélin F, François D, d'Oiron R, Guillet B, de Raucourt E, de Mazancourt P.
    Haematologica; 2005 Aug; 90(8):1149-50. PubMed ID: 16079124
    [Abstract] [Full Text] [Related]

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  • 15. Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling.
    O'Connell NM, Saunders RE, Lee CA, Perry DJ, Perkins SJ.
    J Thromb Haemost; 2005 Jan; 3(1):127-38. PubMed ID: 15634276
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  • 17. A novel heterozygous missense mutation (His127Arg) in a family with inherited cross-reacting material positive factor XI deficiency.
    Castaman G, Giacomelli SH, Tagliaferri A, Rodeghiero F.
    Blood Coagul Fibrinolysis; 2013 Sep; 24(6):670-2. PubMed ID: 23571684
    [Abstract] [Full Text] [Related]

  • 18. [The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg].
    Xie S, Wang HL, Wang XF, Wu WM, Zhou RF, Wang WB, Hu YQ, Wang ZY.
    Zhonghua Xue Ye Xue Za Zhi; 2005 Mar; 26(3):144-7. PubMed ID: 15946525
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  • 20. Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families.
    Colakoglu S, Bayhan T, Tavil B, Keskin EY, Cakir V, Gümrük F, Çetin M, Aytaç S, Berber E.
    Blood Transfus; 2018 Jan; 16(1):105-113. PubMed ID: 27723456
    [Abstract] [Full Text] [Related]

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